Canonical Allele Identifier: CA405424780

Gene: KMT2B

Linked Data

• dbSNP Id: rs1290126442
• gnomAD v2: 19-36223407-T-G
• gnomAD v4: 19-35732506-T-G
• MyVariant Identifiers: chr19:g.36223407T>G (hg19) ; chr19:g.35732506T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732506T>G , CM000681.2:g.35732506T>G	GRCh38
NC_000019.9:g.36223407T>G , CM000681.1:g.36223407T>G	GRCh37
NC_000019.8:g.40915247T>G	NCBI36
NG_052906.1:g.19488T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.263T>G
ENST00000673918.2:c.5891T>G	ENSP00000501283.1:p.Leu1964Arg
ENST00000674114.2:c.3498T>G	ENSP00000501039.2:n.3498T>G
ENST00000684977.1:c.1175T>G	ENSP00000509384.1:p.Leu392Arg
ENST00000689544.1:n.1110T>G
ENST00000691421.1:c.1178T>G	ENSP00000508674.1:p.Leu393Arg
ENST00000691855.1:c.5499T>G
ENST00000692961.1:c.5957T>G	ENSP00000509289.1:p.Leu1986Arg
ENST00000693677.1:c.704+177T>G	ENSP00000509779.1:n.704+177T>G
ENST00000420124.4:c.5957T>G MANE Select	ENSP00000398837.2:p.Leu1986Arg
ENST00000673918.1:c.5891T>G	ENSP00000501283.1:p.Leu1964Arg
ENST00000674114.1:c.3279T>G
ENST00000420124.2:c.5957T>G	ENSP00000398837.1:p.Leu1986Arg
NM_014727.2:c.5957T>G	NP_055542.1:p.Leu1986Arg
XM_011527561.1:c.5891T>G	XP_011525863.1:p.Leu1964Arg
XM_011527562.1:c.5957T>G	XP_011525864.1:p.Leu1986Arg
XM_011527563.1:c.5681T>G	XP_011525865.1:p.Leu1894Arg
XM_011527561.2:c.5393T>G	XP_011525863.2:p.Leu1798Arg
XM_011527562.2:c.5957T>G	XP_011525864.1:p.Leu1986Arg
XM_017027544.1:c.5957T>G	XP_016883033.1:p.Leu1986Arg
XM_017027545.1:c.5393T>G	XP_016883034.1:p.Leu1798Arg
XM_017027546.1:c.2921T>G	XP_016883035.1:p.Leu974Arg
NM_014727.3:c.5957T>G MANE Select	NP_055542.1:p.Leu1986Arg